Year: 2016
Type: article
Study design: Case Report
Abstract: The Freeman-Sheldon syndrome (FSS) (whistling face) is a congenital autosomal dominant disease (rarely described in its autosomal recessive form) characterized by small "whistling" mouth, a flat masklike face, joint contractures (commonly involving the fingers and hands) and underdevelopment of the nasal cartilage.Other clinical features include full forehead, deep set eyes, epicanthal folds, high palate, H-shaped cutaneous dimpling on the chin, ulnar deviation of the hands, seizures, and dislocation of the hip.A 10-day-old male newborn was admitted to our neonatal intensive care unit with jaundice and hyperthermia.He had fever of 42.5°C, small whistling mouth, a flat mask-like face, joint contractures of the fingers, and ulnar deviation of the hands.The parents were consanguineous and one of the boys died when he was 1 years old due to intracranial hemorrhage.To our knowledge, there have been more than 60 cases diagnosed with FSS.This is the first reported case of Freeman-Sheldon syndrome associated with hemophilia A and the second case of FSS associated with fever without anesthesia.
Source: Medical Bulletin of Haseki
DOI: 10.4274/haseki.2915
Authors: Bilge Tanyeri Bayraktar, Süleyman Bayraktar, Hüseyin Arslan, Fatma Betül Çakır
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2575579084